Canonical Allele Identifier: CA33654377

Gene: NPHS2

Linked Data

• dbSNP Id: rs1027476609
• gnomAD v4: 1-179575979-C-T
• MyVariant Identifiers: chr1:g.179545114C>T (hg19) ; chr1:g.179575979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575979C>T , CM000663.2:g.179575979C>T	GRCh38
NC_000001.10:g.179545114C>T , CM000663.1:g.179545114C>T	GRCh37
NC_000001.9:g.177811737C>T	NCBI36
NG_007535.1:g.4971G>A , LRG_887:g.4971G>A

Transcript Alleles

HGVS	Amino-acid Change
XM_017002298.1:c.-115G>A	XP_016857787.1:n.-115G>A
XM_017002299.1:c.-115G>A	XP_016857788.1:n.-115G>A